Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Col19a1'

579587

Institutional Source

Beutler Lab

Gene Symbol

Col19a1

Ensembl Gene

ENSMUSG00000026141

Gene Name

collagen, type XIX, alpha 1

Synonyms

MMRRC Submission

045552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24300971-24626553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24356788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 632 (G632R)

Ref Sequence

ENSEMBL: ENSMUSP00000110899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]

AlphaFold

Q0VF58

Predicted Effect

probably damaging
Transcript: ENSMUST00000051344
AA Change: G632R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G632R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TSPN	47	231	1.61e-63	SMART
low complexity region	254	266	N/A	INTRINSIC
Pfam:Collagen	288	349	1e-9	PFAM
Pfam:Collagen	325	391	2.2e-10	PFAM
Pfam:Collagen	376	442	1.4e-8	PFAM
Pfam:Collagen	436	500	2.9e-9	PFAM
Pfam:Collagen	474	536	6.3e-10	PFAM
Pfam:Collagen	519	579	5.6e-10	PFAM
Pfam:Collagen	559	620	1.2e-8	PFAM
Pfam:Collagen	619	675	8.7e-11	PFAM
Pfam:Collagen	697	774	2.4e-8	PFAM
Pfam:Collagen	753	819	8.7e-10	PFAM
Pfam:Collagen	831	892	8.8e-12	PFAM
internal_repeat_2	905	943	3.52e-11	PROSPERO
internal_repeat_1	905	980	8.61e-26	PROSPERO
internal_repeat_2	947	982	3.52e-11	PROSPERO
low complexity region	983	1003	N/A	INTRINSIC
low complexity region	1030	1042	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115244
AA Change: G632R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G632R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TSPN	47	231	1.61e-63	SMART
low complexity region	254	266	N/A	INTRINSIC
Pfam:Collagen	288	347	3.1e-9	PFAM
Pfam:Collagen	330	391	1.1e-9	PFAM
internal_repeat_4	455	492	1.88e-5	PROSPERO
Pfam:Collagen	519	579	2e-9	PFAM
Pfam:Collagen	559	620	4.9e-8	PFAM
Pfam:Collagen	619	675	3.5e-10	PFAM
low complexity region	723	741	N/A	INTRINSIC
Pfam:Collagen	753	819	2.8e-9	PFAM
Pfam:Collagen	831	892	3.9e-11	PFAM
internal_repeat_2	905	943	1.18e-11	PROSPERO
internal_repeat_1	905	980	8.89e-27	PROSPERO
internal_repeat_2	947	982	1.18e-11	PROSPERO
low complexity region	983	1003	N/A	INTRINSIC
low complexity region	1048	1069	N/A	INTRINSIC
low complexity region	1078	1115	N/A	INTRINSIC

Meta Mutation Damage Score

0.9290

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,266 (GRCm39)	R516G	probably damaging	Het
Ak9	T	C	10: 41,265,087 (GRCm39)	F948S		Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,505,816 (GRCm39)	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,412,482 (GRCm39)	R1186W	unknown	Het
Arpc4	T	A	6: 113,361,092 (GRCm39)	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,684,744 (GRCm39)	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,606,624 (GRCm39)	N103D	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap2	T	C	1: 136,198,678 (GRCm39)	T782A		Het
Catsperd	A	G	17: 56,971,055 (GRCm39)	I706M	probably benign	Het
Cbx2	T	C	11: 118,919,941 (GRCm39)	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515 (GRCm39)	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,720,777 (GRCm39)	Y2609C	probably benign	Het
Efcc1	T	C	6: 87,707,972 (GRCm39)	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,177,709 (GRCm39)	L367*	probably null	Het
Eml2	T	A	7: 18,940,066 (GRCm39)	L627*	probably null	Het
F13b	A	G	1: 139,435,433 (GRCm39)	T193A	probably benign	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,734,913 (GRCm39)	I150N	probably damaging	Het
Man2b2	G	A	5: 36,967,657 (GRCm39)	H904Y	probably damaging	Het
Midn	A	G	10: 79,991,156 (GRCm39)	T389A	possibly damaging	Het
Myo19	A	T	11: 84,776,626 (GRCm39)	H94L	probably benign	Het
Naglu	T	C	11: 100,962,725 (GRCm39)	Y177H	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nxn	A	T	11: 76,152,378 (GRCm39)	V372E	probably damaging	Het
Obscn	G	A	11: 58,984,242 (GRCm39)	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,714,410 (GRCm39)	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,879,441 (GRCm39)	N920S		Het
Pkd1l3	C	A	8: 110,359,947 (GRCm39)	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,894,168 (GRCm39)	E133*	probably null	Het
Qser1	G	A	2: 104,619,859 (GRCm39)	L228F	probably damaging	Het
Rasa3	A	G	8: 13,664,605 (GRCm39)	I69T	possibly damaging	Het
Rb1	A	T	14: 73,506,577 (GRCm39)	S391T	probably damaging	Het
Rnf220	T	C	4: 117,153,333 (GRCm39)	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,851,442 (GRCm39)	K580E	probably damaging	Het
Stard4	T	C	18: 33,338,377 (GRCm39)	Y111C	unknown	Het
Tagap	C	A	17: 8,152,422 (GRCm39)	Q536K	possibly damaging	Het
Tank	T	C	2: 61,480,513 (GRCm39)	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,430,169 (GRCm39)	M144L	probably benign	Het
Tdrd9	T	C	12: 111,951,476 (GRCm39)	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,934,873 (GRCm39)	T1373K	probably benign	Het
Tle1	G	A	4: 72,055,349 (GRCm39)	P434L	probably damaging	Het
Tmed5	A	G	5: 108,272,495 (GRCm39)	V201A	probably benign	Het
Ust	A	G	10: 8,266,650 (GRCm39)		probably null	Het
Vmn2r94	T	C	17: 18,477,767 (GRCm39)	T215A	probably benign	Het
Zfp273	A	T	13: 67,973,251 (GRCm39)	Q126H	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Col19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col19a1	APN	1	24,600,387 (GRCm39)	missense	unknown
IGL00514:Col19a1	APN	1	24,576,013 (GRCm39)	missense	unknown
IGL00756:Col19a1	APN	1	24,362,023 (GRCm39)	missense	possibly damaging	0.85
IGL01408:Col19a1	APN	1	24,345,331 (GRCm39)	splice site	probably benign
IGL01608:Col19a1	APN	1	24,321,626 (GRCm39)	missense	probably damaging	1.00
IGL01664:Col19a1	APN	1	24,600,416 (GRCm39)	missense	unknown
IGL01906:Col19a1	APN	1	24,356,510 (GRCm39)	missense	probably damaging	1.00
IGL01916:Col19a1	APN	1	24,573,322 (GRCm39)	missense	unknown
IGL02040:Col19a1	APN	1	24,351,126 (GRCm39)	critical splice donor site	probably null
IGL02407:Col19a1	APN	1	24,351,453 (GRCm39)	splice site	probably null
IGL02505:Col19a1	APN	1	24,339,665 (GRCm39)	splice site	probably benign
IGL02606:Col19a1	APN	1	24,573,197 (GRCm39)	nonsense	probably null
IGL02659:Col19a1	APN	1	24,573,115 (GRCm39)	missense	unknown
IGL02815:Col19a1	APN	1	24,324,332 (GRCm39)	splice site	probably null
IGL02880:Col19a1	APN	1	24,365,054 (GRCm39)	splice site	probably benign
IGL02897:Col19a1	APN	1	24,573,179 (GRCm39)	missense	unknown
IGL03102:Col19a1	APN	1	24,367,134 (GRCm39)	missense	probably damaging	1.00
R0038:Col19a1	UTSW	1	24,598,825 (GRCm39)	missense	unknown
R0109:Col19a1	UTSW	1	24,598,849 (GRCm39)	splice site	probably null
R0124:Col19a1	UTSW	1	24,565,539 (GRCm39)	missense	unknown
R0326:Col19a1	UTSW	1	24,324,132 (GRCm39)	critical splice donor site	probably null
R0390:Col19a1	UTSW	1	24,328,736 (GRCm39)	splice site	probably benign
R0675:Col19a1	UTSW	1	24,614,536 (GRCm39)	start gained	probably benign
R0826:Col19a1	UTSW	1	24,565,467 (GRCm39)	missense	unknown
R0948:Col19a1	UTSW	1	24,335,882 (GRCm39)	missense	probably damaging	0.98
R1014:Col19a1	UTSW	1	24,340,354 (GRCm39)	critical splice donor site	probably null
R1619:Col19a1	UTSW	1	24,573,172 (GRCm39)	missense	unknown
R1691:Col19a1	UTSW	1	24,576,022 (GRCm39)	missense	unknown
R1878:Col19a1	UTSW	1	24,356,476 (GRCm39)	missense	probably benign	0.40
R1901:Col19a1	UTSW	1	24,576,078 (GRCm39)	missense	unknown
R1928:Col19a1	UTSW	1	24,490,835 (GRCm39)	splice site	probably benign
R1940:Col19a1	UTSW	1	24,303,831 (GRCm39)	nonsense	probably null
R2015:Col19a1	UTSW	1	24,598,834 (GRCm39)	missense	unknown
R2571:Col19a1	UTSW	1	24,413,712 (GRCm39)	missense	unknown
R2844:Col19a1	UTSW	1	24,598,762 (GRCm39)	missense	unknown
R2845:Col19a1	UTSW	1	24,598,762 (GRCm39)	missense	unknown
R3107:Col19a1	UTSW	1	24,377,017 (GRCm39)	missense	possibly damaging	0.71
R3861:Col19a1	UTSW	1	24,365,098 (GRCm39)	missense	probably damaging	1.00
R3872:Col19a1	UTSW	1	24,614,408 (GRCm39)	splice site	probably benign
R4180:Col19a1	UTSW	1	24,309,473 (GRCm39)	missense	probably damaging	1.00
R4195:Col19a1	UTSW	1	24,573,133 (GRCm39)	missense	unknown
R4196:Col19a1	UTSW	1	24,573,133 (GRCm39)	missense	unknown
R4234:Col19a1	UTSW	1	24,354,476 (GRCm39)	splice site	probably null
R4250:Col19a1	UTSW	1	24,564,726 (GRCm39)	missense	unknown
R4396:Col19a1	UTSW	1	24,549,947 (GRCm39)	missense	unknown
R4405:Col19a1	UTSW	1	24,573,190 (GRCm39)	missense	unknown
R4450:Col19a1	UTSW	1	24,361,116 (GRCm39)	missense	probably damaging	0.96
R4583:Col19a1	UTSW	1	24,600,410 (GRCm39)	missense	unknown
R4980:Col19a1	UTSW	1	24,565,564 (GRCm39)	missense	unknown
R5222:Col19a1	UTSW	1	24,598,721 (GRCm39)	splice site	probably null
R5407:Col19a1	UTSW	1	24,342,575 (GRCm39)	missense	probably damaging	0.99
R5439:Col19a1	UTSW	1	24,332,193 (GRCm39)	missense	probably damaging	1.00
R5739:Col19a1	UTSW	1	24,376,996 (GRCm39)	missense	probably damaging	1.00
R5740:Col19a1	UTSW	1	24,376,996 (GRCm39)	missense	probably damaging	1.00
R5891:Col19a1	UTSW	1	24,328,806 (GRCm39)	missense	probably damaging	1.00
R5996:Col19a1	UTSW	1	24,367,152 (GRCm39)	missense	probably damaging	1.00
R6074:Col19a1	UTSW	1	24,565,564 (GRCm39)	missense	unknown
R6152:Col19a1	UTSW	1	24,413,702 (GRCm39)	missense	unknown
R6191:Col19a1	UTSW	1	24,356,474 (GRCm39)	missense	probably damaging	1.00
R6236:Col19a1	UTSW	1	24,319,030 (GRCm39)	missense	probably damaging	1.00
R6315:Col19a1	UTSW	1	24,565,533 (GRCm39)	missense	unknown
R6709:Col19a1	UTSW	1	24,321,577 (GRCm39)	missense	probably damaging	1.00
R6748:Col19a1	UTSW	1	24,573,151 (GRCm39)	missense	unknown
R7098:Col19a1	UTSW	1	24,565,555 (GRCm39)	missense	unknown
R7114:Col19a1	UTSW	1	24,377,017 (GRCm39)	missense	possibly damaging	0.71
R7292:Col19a1	UTSW	1	24,569,089 (GRCm39)	missense	unknown
R7392:Col19a1	UTSW	1	24,573,115 (GRCm39)	missense	unknown
R7480:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7481:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7512:Col19a1	UTSW	1	24,356,788 (GRCm39)	missense	probably damaging	1.00
R7618:Col19a1	UTSW	1	24,361,165 (GRCm39)	missense	probably benign	0.07
R7698:Col19a1	UTSW	1	24,351,159 (GRCm39)	missense	probably benign	0.09
R7711:Col19a1	UTSW	1	24,569,089 (GRCm39)	missense	unknown
R7725:Col19a1	UTSW	1	24,309,525 (GRCm39)	missense	possibly damaging	0.94
R7831:Col19a1	UTSW	1	24,565,563 (GRCm39)	missense	unknown
R8252:Col19a1	UTSW	1	24,319,048 (GRCm39)	missense	probably benign	0.05
R8728:Col19a1	UTSW	1	24,365,113 (GRCm39)	missense	probably damaging	1.00
R9057:Col19a1	UTSW	1	24,549,962 (GRCm39)	missense	unknown
R9210:Col19a1	UTSW	1	24,500,555 (GRCm39)	critical splice donor site	probably null
R9212:Col19a1	UTSW	1	24,500,555 (GRCm39)	critical splice donor site	probably null
R9712:Col19a1	UTSW	1	24,367,148 (GRCm39)	missense	possibly damaging	0.86
R9777:Col19a1	UTSW	1	24,318,904 (GRCm39)	missense	unknown
Z1088:Col19a1	UTSW	1	24,319,021 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGTCCTTACGTCATTCCCTGG -3'
(R):5'- GCATGTGCGAGCAAAGTCTC -3'

Sequencing Primer
(F):5'- TGGCATCCCTGGAGTTCCTG -3'
(R):5'- CATACTTCTAGCCTCGGATAGTTGG -3'

Posted On

2019-10-07